LOVD - Variant listings for RB1

About this overview [Show]

Patient data (#0002715)
Patient ID NCI-H1618
Phenotype -
Mut. origin somatic
Tissue nd
Template DNA
tumor-genotype -
family history -
Reference COSMIC - COSM26897
# Reported 1
Published -
Remarks -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
g-position g.2174delC
cDNA change c.116del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Exon 01_ex
RNA change -
Protein p.Pro39Argfs*26
RBWiki -
expected consequence type frameshift
DB-ID RB1_01519
originated_in somatic

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
?/? Unknown g.2174delC c.116del Deletion 01_ex - p.Pro39Argfs*26 - frameshift RB1_01519 somatic

Please help to improve the quality of the data and report any error that you may find!